Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 27 7.0E-02 6 0.10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 85 4.5E-02 6 1.1E-02
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		276 54 19 4.9E-02 5 7.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 48 4.6E-02 4 6.7E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 50 5.5E-02 4 3.6E-02
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 16 0.12 4 3.3E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 65 5.5E-02 4 1.3E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 5 3.0E-02 4 5.5E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 13 3.7E-02 4 4.5E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 40 7.8E-02 4 8.2E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 13 5.5E-02 3 5.3E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 11 2.3E-02 3 1.1E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 5 1.8E-02 3 4.3E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 17 8.2E-02 3 1.5E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 21 3.8E-02 3 4.7E-03
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 4 3 1.6E-02 3 0.14
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 6 2.7E-02 3 6.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 47 4.5E-02 3 1.6E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 9 3.2E-02 3 1.1E-02
CUI: C4551722
Disease: Encephalocele
Encephalocele 		23 7 4 2.7E-02 3 0.12
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 11 3.0E-02 2 5.4E-03
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 21 9 3.6E-02 2 5.0E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 9 1.8E-02 2 2.9E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 47 7.9E-02 2 2.7E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 21 9 2.8E-02 2 5.0E-02